Cellular and molecular mechanisms underlying autism spectrum disorders and associated comorbidities: A pathophysiological review

Dera, Hussain Al

doi:10.1016/j.biopha.2022.112688

Cited by 9 publications

(7 citation statements)

References 234 publications

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“…At present, there are many theories in the research: genetic hypothesis, non-neurogenic hypothesis, neurochemical hypothesis, mitochondrial dysfunction and oxidative stress hypothesis, immune hypothesis, opioid hypothesis, local translation disorder hypothesis, mTOR signaling pathway hypothesis and so on. [ 5 , 6 ] The immune hypothesis is considered the main factor leading to the pathogenesis of autism, and it also explains the differences in clinical phenotypes and complications that affect the progression and severity of the disease. [ 7 ] Research shows that the cytokine level IL-6, IL-8, IL-1 β Changes in cytokine levels can affect the stereotyped behavior of ASD, [ 8 ] and the reduction of TGF-b1 level is related to the reduction of adaptive behavior and the deterioration of behavioral symptoms.…”

Section: Introductionmentioning

confidence: 99%

Analysis of potential biomarkers and immune infiltration in autism based on bioinformatics analysis

et al. 2023

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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder caused by both environmental and genetic factors. However, its etiology and pathogenesis remain unclear. The purpose of this study was to establish an immune-related diagnostic model for ASD using bioinformatics methods and to identify ASD biomarkers. Two ASD datasets, GSE18123 and GSE29691, were integrated into the gene expression Database to eliminate batch effects. 41 differentially expressed genes were identified by microarray data linear model (limma package). Based on the results of the immune infiltration analysis, we speculated that neutrophils, B cells naive, CD8+ T cells, and Tregs are potential core immune cells in ASD and participate in the occurrence of ASD. Finally, the differential genes and immune infiltration in ASD and non-ASD patients were compared, and the most relevant genes were selected to construct the first immune correlation prediction model of ASD. After the calculation, the model exhibited better accuracy. The calculations show that the model has good accuracy.

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Section: Introductionmentioning

confidence: 99%

Analysis of potential biomarkers and immune infiltration in autism based on bioinformatics analysis

et al. 2023

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“…Related disorders include attention deficit hyperactivity disorder (ADHD), gastrointestinal distress, anxiety, depression, epilepsy, and fragile X syndrome (FXS). [7] Genetics, environmental variables, neuroinflammation, oxidative stress, and other factors all have a role in autism.…”

Section: Introductionmentioning

confidence: 99%

Exploring the interconnection of autism and intellectual disability: Advancements in current research overview

Anand,

Singh

2023

Pharmaspire

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This comprehensive review provides an in-depth examination of the current understanding of the link between autism spectrum disorder (ASD) and intellectual disability (ID). Drawing from empirical research, clinical studies, and theoretical frameworks, the review explores the shared features, etiological factors, diagnostic challenges, and intervention strategies associated with the cooccurrence of ASD and ID. Neurobiological overlaps, including genetic and neurodevelopmental perspectives, are discussed to uncover the complex relationship between these conditions. The review also highlights the phenotypic variability observed in individuals with dual diagnoses, emphasizing the need for personalized approaches to assessment and intervention. Diagnostic considerations, such as diagnostic criteria, assessment tools, and potential biases, are addressed to improve accurate identification and classification. Furthermore, the impact of ASD and ID on various aspects of daily functioning, including cognitive abilities, adaptive skills, social interaction, and academic achievement, is examined. Evidence-based intervention strategies, ranging from behavioral interventions to educational approaches, are explored, along with the importance of early intervention and multidisciplinary collaboration. By synthesizing existing knowledge, this review aims to deepen our understanding of the link between ASD and ID, providing valuable insights for researchers, clinicians, and educators. The review concludes with suggestions for future research directions, highlighting the need for longitudinal studies, advanced neuroimaging techniques, and the development of targeted interventions for individuals with dual diagnoses. Ultimately, this review serves as a comprehensive resource to inform clinical practice, policy-making, and further advancements in supporting individuals with ASD and ID.

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“…Autism spectrum disorder (ASD) is an enigmatic neurodevelopment disorder that affects approximately 2% of children [ 1 ]. The etiology is not known in most cases, with studies suggesting that it involves multiple organs and physiological systems outside of the brain [ 2 ] and the deregulation of diverse subcellular molecular pathways [ 3 ]. For example, abnormalities in immune regulation; metabolism, including folate and energy metabolism; and redox regulations and methylation have been documented in multiple studies, but the origin of these abnormalities, how they are connected, and their effects on ASD symptoms remain unclear [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…For example, abnormalities in immune regulation; metabolism, including folate and energy metabolism; and redox regulations and methylation have been documented in multiple studies, but the origin of these abnormalities, how they are connected, and their effects on ASD symptoms remain unclear [ 4 ]. Molecular pathways including mTOR, PTEN, AKT, and β-catenin have also been found to be deregulated in ASD [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Integrated microRNA–mRNA Expression Profiling Identifies Novel Targets and Networks Associated with Autism

Gill

Dweep

Rose

et al. 2022

JPM

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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, with mutations in hundreds of genes contributing to its risk. Herein, we studied lymphoblastoid cell lines (LCLs) from children diagnosed with autistic disorder (n = 10) and controls (n = 7) using RNA and miRNA sequencing profiles. The sequencing analysis identified 1700 genes and 102 miRNAs differentially expressed between the ASD and control LCLs (p ≤ 0.05). The top upregulated genes were GABRA4, AUTS2, and IL27, and the top upregulated miRNAs were hsa-miR-6813-3p, hsa-miR-221-5p, and hsa-miR-21-5p. The RT-qPCR analysis confirmed the sequencing results for randomly selected candidates: AUTS2, FMR1, PTEN, hsa-miR-15a-5p, hsa-miR-92a-3p, and hsa-miR-125b-5p. The functional enrichment analysis showed pathways involved in ASD control proliferation of neuronal cells, cell death of immune cells, epilepsy or neurodevelopmental disorders, WNT and PTEN signaling, apoptosis, and cancer. The integration of mRNA and miRNA sequencing profiles by miRWalk2.0 identified correlated changes in miRNAs and their targets’ expression. The integration analysis found significantly dysregulated miRNA–gene pairs in ASD. Overall, these findings suggest that mRNA and miRNA expression profiles in ASD are greatly altered in LCLs and reveal numerous miRNA–gene interactions that regulate critical pathways involved in the proliferation of neuronal cells, cell death of immune cells, and neuronal development.

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Cellular and molecular mechanisms underlying autism spectrum disorders and associated comorbidities: A pathophysiological review

Cited by 9 publications

References 234 publications

Analysis of potential biomarkers and immune infiltration in autism based on bioinformatics analysis

Analysis of potential biomarkers and immune infiltration in autism based on bioinformatics analysis

Exploring the interconnection of autism and intellectual disability: Advancements in current research overview

Integrated microRNA–mRNA Expression Profiling Identifies Novel Targets and Networks Associated with Autism

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